Autori: T. Marcovici, I. Sabau, I. Simedrea, M. Mihaescu, M. Puiu, R. Tudorache;

Editorial: nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, p.130, 2008.

Rezumat:

Wolf-Hirschorn syndrome is a rare disease caused by the partial deletion of the fourth chromosome’s short arm. Female to male ratio is 2:1. Because of the vast range of deleted material (1% to 50%) the effect on each child varies widely, but the facial appearance is suggestive of 4p- syndrome. No treatment exists for the underlying disorder and the management is supportive.
We present a nine months old female admitted in our clinic for sistolic cardiac murmur. A comprehensive medical evaluation was made: prenatal and birth history, physical, neurologic and genetic examinations, biologic and imagistic evaluations (cardiac and abdominal ultrasonography, chest and skull films, brain MRI).
The patient is the second child of a young couple. She was delivered full term with a weight of 3400g and her development was normal.
By clinical examination we noticed craniofacial dysmorphism: right parieto-occipital plagiocephaly, downward lips, distinct ,,Greek warrior helmet” face with broad beaked nose, high frontal hairline, frontal bossing, hypertelorism; dysmorphic downward ears, bilateral preauricular tubercles, low occipital hair insertion. Skin dimples on elbows and left parasternal holosistolic cardiac murmur were present. Imagistic evaluations show large axial and transverse skull diameters and normal sized.cerebral ventricles. Small ventricular septal defect with left-to-right shunt was detected. Serologic tests for TORCH syndrome and immunoglobulin level were normal. Karyotype analysis noticed deletion in 4p15-pter region.
Conclusion: Although the patient has no growth problems or physical disabilities, nor mental retardation, constant cardiologic and neurologic follow-up care is required.

Cuvinte cheie: Wolf-Hirschorn, sindrom // Wolf-Hirschorn, syndrome

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